Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8726
Gene name	Embryonic ectoderm development
Gene symbol	EED
Synonyms (NCBI Gene)	COGISHEEDWAIT1
Chromosome	11
Chromosome location	11q14.2
Summary	This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts w

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1131692173	A>C,G	Pathogenic	Intron variant, synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs1131692174	C>T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1131692175	A>G	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1131692176	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all (86)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004086	hsa-miR-101-3p	Western blot	19008416
MIRT021689	hsa-miR-138-5p	Western blot;qRT-PCR	21770894
MIRT029750	hsa-miR-26b-5p	Microarray	19088304
MIRT048018	hsa-miR-30c-5p	CLASH	23622248
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718467	hsa-miR-3155a	HITS-CLIP	19536157
MIRT718466	hsa-miR-3155b	HITS-CLIP	19536157
MIRT718465	hsa-miR-484	HITS-CLIP	19536157
MIRT718464	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT718463	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT718462	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT718461	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT718460	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT718459	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT718458	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT718457	hsa-miR-3977	HITS-CLIP	19536157
MIRT718456	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT718455	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT718454	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT727802	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727801	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727799	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727800	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT727798	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727797	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT048018	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727796	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727795	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718467	hsa-miR-3155a	HITS-CLIP	19536157
MIRT718466	hsa-miR-3155b	HITS-CLIP	19536157
MIRT718465	hsa-miR-484	HITS-CLIP	19536157
MIRT718464	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT718463	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT718462	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT718461	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT718460	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT718459	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT718458	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT718457	hsa-miR-3977	HITS-CLIP	19536157
MIRT718456	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT718455	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT718454	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT952951	hsa-miR-101	CLIP-seq
MIRT952952	hsa-miR-181a	CLIP-seq
MIRT952953	hsa-miR-181b	CLIP-seq
MIRT952954	hsa-miR-181c	CLIP-seq
MIRT952955	hsa-miR-181d	CLIP-seq
MIRT952956	hsa-miR-186	CLIP-seq
MIRT952957	hsa-miR-3065-5p	CLIP-seq
MIRT952958	hsa-miR-30a	CLIP-seq
MIRT952959	hsa-miR-30b	CLIP-seq
MIRT952960	hsa-miR-30c	CLIP-seq
MIRT952961	hsa-miR-30d	CLIP-seq
MIRT952962	hsa-miR-30e	CLIP-seq
MIRT952963	hsa-miR-323-3p	CLIP-seq
MIRT952964	hsa-miR-34c-3p	CLIP-seq
MIRT952965	hsa-miR-3941	CLIP-seq
MIRT952966	hsa-miR-4262	CLIP-seq
MIRT952967	hsa-miR-4303	CLIP-seq
MIRT952968	hsa-miR-4468	CLIP-seq
MIRT952969	hsa-miR-4477a	CLIP-seq
MIRT952970	hsa-miR-4495	CLIP-seq
MIRT952971	hsa-miR-4645-3p	CLIP-seq
MIRT952972	hsa-miR-466	CLIP-seq
MIRT952973	hsa-miR-4672	CLIP-seq
MIRT952974	hsa-miR-4735-5p	CLIP-seq
MIRT952975	hsa-miR-4775	CLIP-seq
MIRT952976	hsa-miR-495	CLIP-seq
MIRT952977	hsa-miR-499-3p	CLIP-seq
MIRT952978	hsa-miR-499a-3p	CLIP-seq
MIRT952979	hsa-miR-513a-3p	CLIP-seq
MIRT952980	hsa-miR-520d-5p	CLIP-seq
MIRT952981	hsa-miR-524-5p	CLIP-seq
MIRT952982	hsa-miR-590-3p	CLIP-seq
MIRT952983	hsa-miR-603	CLIP-seq
MIRT952984	hsa-miR-7	CLIP-seq
MIRT952985	hsa-miR-936	CLIP-seq
MIRT952986	hsa-miR-3691-3p	CLIP-seq
MIRT952987	hsa-miR-548aa	CLIP-seq
MIRT952970	hsa-miR-4495	CLIP-seq
MIRT952974	hsa-miR-4735-5p	CLIP-seq
MIRT952975	hsa-miR-4775	CLIP-seq
MIRT952982	hsa-miR-590-3p	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001222	Function	Transcription corepressor binding	IPI	29628311
GO:0001739	Component	Sex chromatin	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	16357870, 17041588, 17560333, 20075857, 20080539, 20211142, 20543829, 21078963, 22009739, 22094255, 22439931, 22897849, 23238014, 24981860, 26496610, 27705803, 28229514, 29628311, 30021884, 32296183, 32814053, 33961781, 34591612, 35016035
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9584199
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005677	Component	Chromatin silencing complex	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0008047	Function	Enzyme activator activity	IDA	15385962
GO:0008047	Function	Enzyme activator activity	IEA
GO:0008047	Function	Enzyme activator activity	IMP	28229514
GO:0021510	Process	Spinal cord development	IEA
GO:0031491	Function	Nucleosome binding	IBA
GO:0031507	Process	Heterochromatin formation	IBA
GO:0035098	Component	ESC/E(Z) complex	IBA
GO:0035098	Component	ESC/E(Z) complex	IDA	15385962, 20075857, 23104054, 23273982
GO:0035098	Component	ESC/E(Z) complex	IEA
GO:0042802	Function	Identical protein binding	IPI	11124122
GO:0045120	Component	Pronucleus	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	NAS	9584199
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0071514	Process	Genomic imprinting	IEA
GO:0140718	Process	Facultative heterochromatin formation	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:2000011	Process	Regulation of adaxial/abaxial pattern formation	IEA

MIM	HGNC	e!Ensembl
605984	3188	ENSG00000074266

O75530

Protein name

Polycomb protein EED (hEED) (Embryonic ectoderm development protein) (WD protein associating with integrin cytoplasmic tails 1) (WAIT-1)

Protein function

Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes 'Lys-26' trimethylated histone H1 with

PDB

3IIW , 3IIY , 3IJ0 , 3IJ1 , 3IJC , 3JPX , 3JZG , 3JZH , 3JZN , 3K26 , 3K27 , 4W2R , 4X3E , 5GSA , 5H13 , 5H14 , 5H15 , 5H17 , 5H19 , 5H24 , 5H25 , 5HYN , 5IJ7 , 5IJ8 , 5K0M , 5LS6 , 5TTW , 5U5H , 5U5K , 5U5T , 5U62 , 5U69 , 5U6D , 5U8A , 5U8F , 5WG6 , 5WP3 , 5WUK , 6B3W , 6C23 , 6C24 , 6LO2 , 6SFB , 6SFC , 6U4Y , 6V3X , 6V3Y , 6W7F , 6W7G , 6WKR , 6YVI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	180 → 219	WD domain, G-beta repeat	Repeat
PF00400	WD40	225 → 264	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, colon, heart, kidney, liver, lung, muscle, ovary, peripheral blood leukocytes, pancreas, placenta, prostate, spleen, small intestine, testis, thymus and uterus. Appears to be overexpressed in breast and colon cancer

Sequence

MSEREVSTAPAGTDMPAAKKQKLSSDENSNPDLSGDENDDAVSIESGTNTERPDTPTNTP
NAPGRKSWGKGKWKSKKCKYSFKCVNSLKEDHNQPLFGVQFNWHSKEGDPLVFATVGSNR
VTLYECHSQGEIRLLQSYVDADADENFYTCAWTYDSNTSHPLLAVAGSRGIIRIINPITM
QCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHALRLWNIQTDTLVAIFGGVEGHRDEVL
SADYDLLGEKIMSCGMDHSLKLWRINSKRMMNAIKESYDYNPNKTNRPFISQKIHFPDFS
TRDIHRNYVDCVRWLGDLILSKSCENAIVCWKPGKMEDDIDKIKPSESNVTILGRFDYSQ
CDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAKCTTLTHHKCGAAIRQTSFSR
DSSILIAVCDDASIWRWDRLR

Sequence length

441

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex		PRC2 methylates histones and DNA Oxidative Stress Induced Senescence PKMTs methylate histone lysines Regulation of PTEN gene transcription Transcriptional Regulation by E2F6 HCMV Early Events

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs2495862536	RCV003127305
Cohen-Gibson syndrome	Likely pathogenic; Pathogenic	rs1945710855, rs2495876442, rs1131692173, rs1131692174, rs1131692175, rs1131692176, rs1565706229, rs1593776227	RCV002273048 RCV003757717 RCV000495739 RCV000494950 RCV000495365 RCV000495685 RCV000708568 RCV000988621
Neurodevelopmental delay	Likely pathogenic	rs2138241608	RCV002274336

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Uncertain significance	rs372966988	RCV005934675
EED-related disorder	Uncertain significance; Likely benign; Benign	rs2495851985, rs759130955, rs140412401, rs202074959, rs2495811356, rs776126866, rs372689705, rs79218214, rs149126431, rs147440081	RCV003404378 RCV003420923 RCV003956458 RCV003981049 RCV003949165 RCV003952907 RCV004754646 RCV003942983 RCV003953382 RCV004754715
Hereditary breast ovarian cancer syndrome	Uncertain significance	rs772993565	RCV001374529

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia Aplastic	Associate	36635771
Arthritis Rheumatoid	Associate	36969166
Breast Neoplasms	Associate	23251464
Cholangiocarcinoma	Associate	24089088
Colitis Ulcerative	Associate	23709348
Colorectal Neoplasms	Associate	23709348, 26567139
Gastritis Atrophic	Associate	30249557
GATA2 Deficiency	Associate	26337274
Glioblastoma	Associate	34266885
Hereditary leiomyomatosis and renal cell cancer	Associate	14982841
Infratentorial Neoplasms	Associate	29909548
Intestinal Diseases	Stimulate	30249557
Leukemia Myeloid Acute	Associate	35747989
Lymphatic Metastasis	Associate	23251464, 23709348
Lymphoma Non Hodgkin	Associate	37161535
Medulloblastoma	Associate	36635771
Mitochondrial Diseases	Associate	30404791
Myelodysplastic Syndromes	Associate	31680297
Neoplasms	Associate	23251464, 23709348, 23974116, 29681499, 32666581, 34266885, 36941558
Neoplasms	Inhibit	36858198
Neuroblastoma	Associate	29202477, 35636260
Neurofibrosarcoma	Associate	25240281, 26645727, 26990975, 28752843, 28762137, 29482987, 30291346, 32666581
Ovarian Neoplasms	Associate	36941558
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237106, 30404791
Prostatic Neoplasms	Associate	15817459
Rectal Neoplasms	Associate	23709348
Simpson Golabi Behmel syndrome	Associate	28475857
Stomach Neoplasms	Associate	30249557
Tertiary Lymphoid Structures	Associate	23251464, 23709348
Weaver syndrome	Associate	29681499

EED (embryonic ectoderm development)